A Prospective Study of Genetic Variants in Infants with Congenital Unilateral Sensorineural Hearing Loss.

ABSTRACT: Children with unilateral sensorineural hearing loss (uSNHL) have a high risk of speech-language delays and academic difficulties. Still, challenges remain in the diagnosis of uSNHL. With a prospective cross-sectional design, 20 infants were consecutively recruited from a universal newborn hearing screening program and invited to genetic testing. Eighteen of the subjects agreed to genetic testing, 15 subjects with OtoSCOPE^® v.9 screening 224 genes, and four subjects underwent targeted testing, screening for chromosomal abnormalities or 105-137 gene mutations. The genetic results were described together with the 20 infants' previously published auditory profiles and imaging results. Genetic causes for the uSNHL were found in 28% of subjects (5/18) including CHARGE syndrome (CHD7),

SUBMITTER: Johansson M 

PROVIDER: S-EPMC9860725 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature